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SERPINA1

serpin family A member 1
5 disorders 3 untyped 1 causative 1 modifier 1 no genetic record 14q32.13 gene with protein product
HGNC:8941MonarchNCBI Gene 5265ENSG00000197249UniProt P01009OMIM 107400

Previous symbols: PI. Aliases: AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Alpha-1 Antitrypsin Deficiency causativemodifier
mechanism: Hepatic Protein Aggregation; Protease-Antiprotease Imbalance in Lung
animal model: Mus musculus
Chronic_Obstructive_Pulmonary_Disease untyped
Alpha-1 antitrypsin deficiency is the most common genetic cause of COPD.
Granulomatosis with Polyangiitis untyped
Risk Factor
Liver Cirrhosis untyped
Causative
Leptospirosis no genetic record
mechanism: Acute systemic immune activation with TNF and interferon signaling
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.